Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 20 of 42 for “"KO mouse"”.
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PHENOTYPIC AND MOLECULAR CHARACTERIZATION OF A NOVEL P63ALPHA;KO MOUSE MODEL
… stratification. Here we describe a new p63α-/- mouse model in which we delete exon 13 leading to the expression of the p63β isoform. Newborn p63α-/- mice die soon after birth and are characterised by cleft palate and digit malformations but exhibit normal skin. Our study indicates that p63α and …
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The Role of FBXO7 in Mitochondrial Biology and Parkinson's Disease
… knockdown SH-SY5Y cell lines, FBXO7 CRISPR knockout SH-SY5Y cell lines, primary patient fibroblasts with a FBXO7 mutation, and MEFs and tissues from a Fbxo7 KO mouse. My analysis of fibroblasts from a patient without FBXO7 expression revealed several interesting phenotypes. Briefly, the patient …
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A vitamin D enriched diet attenuates sex-specific behavioral deficits in the NS-Pten knockout mouse.
… The neural subset-specific (NS) Pten knockout (KO) mouse has shown autistic-like deficits and has a lower bone mineral density. We examined the effect of a vitamin D enriched diet in the NS-Pten KO mouse. Results indicated that a vitamin D diet attenuated altered activity levels in male …
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Regulation of mammalian neuronal circuit development by CPG 15
… of developing brain circuits. Here we utilize a mouse mutant, which is null for the cpg15 gene (cpg15 KO), to elucidate the mechanism of CPG15 function in the developing brain. Analysis of the cpg15 KO mouse suggests that CPG15 signaling leads to the selection and stabilization of synapses in the …
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The selenium recycling enzyme selenocysteine lyase: regulation and physiological role in glucose and lipid metabolism
… in the liver of the Selenoprotein P (Sepp1) knockout (KO) mouse, a model lacking the Se transporter protein with elevated hepatic Se content. Additionally, this dissertation reports the development and characterization of a Scly KO mouse. This mouse model presents diminished Se content and …
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Targeting troubled translation : investigating novel therapeutic targets in mouse models of fragile X and 16p1 1.2 deletion syndrome
… for the treatment of FX. Finally, we show that a mouse model of 16p1 1.2 microdeletion disorder, a polygenic disorder known to confer risk for ASD and ID in humans, shares common features of synaptic dysfunction downstream of mGlu₅ with the Fmr KO mouse. Chronic administration of pharmaceutical …
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Investigating the Role of PARylation in Regulating Skeletal Muscle Mass and Function in Healthy Mature Mice
… and Parg in inducible skeletal muscle-specific KO mouse models followed by performing general phenotyping of both male and female mice. The thesis concludes that under normal physiological conditions the activity of Parp1 or Parg in (de)PARylation is dispensable for maintaining skeletal muscle …
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Role of GluN2C-containing NMDA Receptors in Cellular and Behavioral Deficits Associated with Corticothalamic Circuit Dysfunction in Schizophrenia
… In the present study, we used two GluN2C KO mouse model to further characterize the deficits associated with a reduction in GluN2C, as well as to elucidate the expression pattern of the GluN2C subunit. We found cellular and synaptic deficits in GluN2C knockout mice including lower …
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X-LINKED RETINOSCHISIS ELECTROPHYSIOLOGY, MOLECULAR GENETICS AND TREATMENT
… treatment of retinal detachment. We generated a mouse model, Rs1-KO, deficient in Rs1 gene, to determine the role of RS1 protein, retinoschisin, in retinal structure and function. The knockout mouse mimics structural features of human X-linked juvenile retinoschisis with progressive rod and cone …
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Cellular and synaptic pathophysiology in a rat model of Fragile X syndrome
… twenty years, mainly focusing on the Fmr1 knockout (KO) mouse, have uncovered several cellular and behavioural phenotypes associated with the loss of FMRP. Seminal work using the Fmr1 KO mouse found that metabotropic glutamate receptor mediated long-term depression (mGluR-LTD) in the …
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Functional Characterization of CRIP1a Knockout Mice
… of CRIP1a by characterizing the first CRIP1a knockout (KO) mouse line. The absence of CRIP1a was confirmed in KO mice using quantitative PCR and immunoblotting. I hypothesized that CRIP1a KO mice would exhibit enhanced CB1 receptor-mediated G-protein activity in the CNS, as well as cannabimemetic …
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MIR-181A/B INHIBITION AS A NEW STRATEGY FOR MITOCHONDRIAL DISEASE TREATMENT
… approach in different MD models: the Ndufs4 knockout (KO) mouse, which serves as a Leber’s Hereditary Optic Neuropathy (LHON) and Leigh syndrome (LS) model, two of the most prevalent MDs, and the rotenone-induced mouse model, an additional in vivo model of LHON. Notably, our results demonstrate …
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Knockout of the glutamate transporter GLT-1 specifically from neurons drastically alters transcriptome profiles in CA3, CA1, and Striatum
… Rosenberg lab has generated a conditional GLT- 1 KO mouse line where GLT-1 can be specifically deleted from neurons. The aim of this project was to investigate the transcriptome profiles resultant from knockout of neuronal GLT-1 (nGLT-1), within regions known to express GLT-1 on neurons, and to …
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The role of scatter factor receptor Met in mobilizing antigen presenting dendritic cells in vivo
… is presented by employing a conditional Met KO mouse model (Mx-Cre/Met fl/fl). In vivo, a distinct pattern of Met surface expression was found in different DC subpopulations, including dDCs and LCs in peripheral and lymphoid organs in steady-state. Activation of dDCs/LCs upon inflammation …
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A Study on an FMRP-Mediated Translational Switch in the MGluR-Triggered Translation of Arc and Synaptic Plasticity
… synaptic depression (mGluR-LTD) are altered in a mouse model of Fragile X Syndrome, Fmr1 knockout (KO) mouse. Fmr1 encodes the Fragile X mental retardation protein (FMRP), a dendritic RNA-binding protein that functions, in part, as a translational suppressor. It is unknown if and how FMRP acutely …
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Structural mechanisms of experience-dependent synaptic plasticity in the mouse visual cortex
… I investigated OD plasticity within the CX3CR1 KO mouse. My experiments reveal increased lysosomal content, structural plasticity of thalamocortical synapses, and OD shifts measured with visually evoked potentials (VEPs) all occur normally in this mutant mouse as a result of 3 days of MD with …
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PIEZO1 Channel-Mediated Mechanotransduction as a Driver of Cardiac Remodelling
… fibroblast-specific Piezo1 conditional knockout mice and performed transverse aortic constriction, echocardiography, invasive hemodynamic assessment, and anatomical measurements to evaluate both structural and functional outcomes. I did immunohistochemistry and cytokine arrays to …
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Phenotypic And Electrophysiologic Characterization of a Mouse Model of Fragile X Syndrome
… deficits. The development of the FMR1 knockout (Fmr1 KO) mouse, in which the Fmr1 gene is inactivated, has provided an animal model that can be used to investigate underlying neuro-physiological mechanisms associated with FXS as well as to evaluate potential therapeutic treatments. In this …
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Identification and characterisation of new factors and mechanisms regulating human cytochrome c oxidase biogenesis
… of pathogenic variants in APOPT1. An Apopt1 knockout (KO) mouse model was generated by CRISPR/Cas9 to study the role of the APOPT1 protein in relation with COX biogenesis. Phenotypic characterisation showed COX deficiency in all tissues, associated with neuromuscular impairment, similar to the …
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The effects of complex I deficiency on neurogenesis and white matter development in a mouse model of Leigh Syndrome (LS)
… characterized. We leveraged the NDUFS4 knockout (KO) mouse, a well-established model of Complex I (CI) deficiency that recapitulates key clinical and neuropathological features of LS, to test whether sustained CI loss during early development disrupts NSC proliferation and lineage …
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